Varaico: Literature-Extracted Genetic Variants

GOSR2

97 papers

RefSeq Summary

This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be in...

Pfam Domains

BOS1_GOSR2_MEM11-like_Naa 1–89UCSCBOS1/GOSR2/MEM11, N-terminal domain

BOS1_GOSR2_MEM11-like_Naa 1–107UCSCBOS1/GOSR2/MEM11, N-terminal domain

V-SNARE_Caa 121–186UCSCSnare region anchored in the vesicle membrane C-terminus

Gene Aliases

HGNC Name

golgi SNAP receptor complex member 2

HGNC Alias Symbols

GS27; Bos1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_004287.5

p.T8fs

c.22_23fs

Surrounding Variants

5 papers

NM_004287.5

p.T8insFs

c.22dupA

1 paper

NM_004287.5

p.Q6R

c.17A>G

1 paper

NM_004287.5

p.K10Splc

c.29+4A>C

1 paper

NM_004287.5

p.P3T

c.7C>A

9 papers

NM_004287.5

p.M1R

c.2T>G

2 papers

NM_004287.5

p.M1L

c.1A>C

2 papers

NM_004287.5

p.M1L

c.1A>T

1 paper

NM_004287.5

p.I15_Q16insFs

c.45_46insGT

1 paper

NM_001321134.2

p.M1L

c.1A>C

1 paper

NM_001321134.2

p.M1L

c.1A>T

1 paper

NM_001321134.2

p.M1R

c.2T>G

1 paper

NM_004287.5

p.L22_E23insA

c.64_68ins3